Baiap2 brain-specific angiogenesis inhibitor 1-associated protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Baiap2provided by MGI
Official Full Name: brain-specific angiogenesis inhibitor 1-associated protein 2provided by MGI
Primary source: MGI:MGI:2137336
See related: Ensembl:ENSMUSG00000025372 AllianceGenome:MGI:2137336
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: IRSp53
Summary: Predicted to enable several functions, including PDZ domain binding activity; identical protein binding activity; and scaffold protein binding activity. Involved in several processes, including actin filament organization; modification of synaptic structure, modulating synaptic transmission; and regulation of cell shape. Acts upstream of or within dendrite development and regulation of synaptic plasticity. Located in Schaffer collateral - CA1 synapse and neuron projection. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in Gilles de la Tourette syndrome; attention deficit hyperactivity disorder; and autism spectrum disorder. Orthologous to human BAIAP2 (BAR/IMD domain containing adaptor protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 31.0), cortex adult (RPKM 30.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.96 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (119833762..119897608)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (119939916..120006782)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The PFC-LH-VTA pathway contributes to social deficits in IRSp53-mutant mice.
Title: The PFC-LH-VTA pathway contributes to social deficits in IRSp53-mutant mice.
A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.
Title: A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.
Molecular Relay Stations in Membrane Nanotubes: IRSp53 Involved in Actin-Based Force Generation.
Title: Molecular Relay Stations in Membrane Nanotubes: IRSp53 Involved in Actin-Based Force Generation.
Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant mice.
Title: Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant mice.
IRSp53 promotes postsynaptic density formation and actin filament bundling.
Title: IRSp53 promotes postsynaptic density formation and actin filament bundling.
Disruption of Robo2-Baiap2 integrated signaling drives cystic disease.
Title: Disruption of Robo2-Baiap2 integrated signaling drives cystic disease.
Superresolution microscopy reveals distinct localisation of full length IRSp53 and its I-BAR domain protein within filopodia.
Title: Superresolution microscopy reveals distinct localisation of full length IRSp53 and its I-BAR domain protein within filopodia.
double knockout of IRSp53 and its closest family member, IRTKS, resulted in exacerbated placental abnormalities, particularly in spongiotrophoblast differentiation and development, giving rise to complete embryonic lethality.
Title: Redundant functions of I-BAR family members, IRSp53 and IRTKS, are essential for embryonic development.
CDC42 activation inhibits this activity and promotes IRSp53-dependent recruitment and clustering of VASP to drive actin assembly.
Title: CDC42 switches IRSp53 from inhibition of actin growth to elongation by clustering of VASP.
VASP physically interacted with IRSp53 in NIH-Src cells and was essential for podosome formation.
Title: IRSp53 mediates podosome formation via VASP in NIH-Src cells.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE292689 (e-PCR)
- UniSTS:209201

RH125153 (e-PCR)
- UniSTS:161975

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal anchor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables proline-rich region binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Rho protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in actin crosslink formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin crosslink formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of dendritic spine morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of excitatory postsynaptic potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in protein localization to synapse	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of modification of postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in dendritic spine cytoplasm	ISO Inferred from Sequence Orthology more info
located_in excitatory synapse	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection branch point	ISO Inferred from Sequence Orthology more info
located_in neuron projection terminus	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic cytosol	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density, intracellular component	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: brain-specific angiogenesis inhibitor 1-associated protein 2

Names: BAI-associated protein 2; BAI1-associated protein 2; insulin receptor substrate p53; insulin receptor substrate protein of 53 kDa; insulin receptor tyrosine kinase 53 kDa substrate

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001037754.3 → NP_001032843.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform c

See identical proteins and their annotated locations for NP_001032843.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus and lacks an internal segment compared to isoform a.

Source sequence(s)

AF390179, AK145924, AL953913

Consensus CDS

CCDS25723.1

UniProtKB/Swiss-Prot

Q8BKX1

UniProtKB/TrEMBL

Q3UKP6

Related

ENSMUSP00000099310.4, ENSMUST00000103021.10

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:338 → 396

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
NM_001037755.3 → NP_001032844.2 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform a

See identical proteins and their annotated locations for NP_001032844.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK049469, AK145924, CO039918

Consensus CDS

CCDS25722.1

UniProtKB/Swiss-Prot

Q8BKX1, Q91V97, Q923V9, Q923W0

Related

ENSMUSP00000026436.4, ENSMUST00000026436.10

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:378 → 436

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
NM_130862.4 → NP_570932.2 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform b

See identical proteins and their annotated locations for NP_570932.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AL929234, AL953913

Consensus CDS

CCDS25724.1

UniProtKB/TrEMBL

Q3UKP6

Related

ENSMUSP00000074674.6, ENSMUST00000075180.12

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:378 → 436

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

119833762..119897608

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531966.5 → XP_006532029.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform X1

See identical proteins and their annotated locations for XP_006532029.1

UniProtKB/TrEMBL

B1AZ46

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:378 → 436

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
XM_006531967.5 → XP_006532030.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform X1

See identical proteins and their annotated locations for XP_006532030.1

UniProtKB/TrEMBL

B1AZ46

Related

ENSMUSP00000101840.2, ENSMUST00000106233.2

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:378 → 436

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
XM_006531968.5 → XP_006532031.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform X1

See identical proteins and their annotated locations for XP_006532031.1

UniProtKB/TrEMBL

B1AZ46

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:378 → 436

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
XM_036156221.1 → XP_036012114.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform X3

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:338 → 396

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53
XM_006531969.5 → XP_006532032.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform X2

Conserved Domains (2) summary

cd07646
Location:5 → 236

I-BAR_IMD_IRSp53; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Insulin Receptor tyrosine kinase Substrate p53

cd11915
Location:338 → 396

SH3_Irsp53; Src Homology 3 domain of Insulin Receptor tyrosine kinase Substrate p53